Association of APOA1 -75G/A and +83C/T polymorphic variation with acute coronary syndrome patients in Kashmir (India)

Introduction: Acute coronary syndrome (ACS) comes under the ambit of cardiovascular disease.APOA-1 gene plays a vital role in lipid metabolism and has been observed to have plausible role in ACS. This cross sectional case-control study was conducted to evaluate association between APOA1-75G/A(rs1799837), +83C/T (rs5069) genotypes and risk for ACS. Methods: The current case-control study that included confirmed 90 ACS cases and 150 healthy controls were genotyped for APOA1-75 G/A and +83 C/T by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLF) method. Results: APOA1-75G/A distribution of genotypes/alleles among cases and controls was seen proportionally same with no association to ACS (P = 0.5). APOA1+83 C/T variants showed protective effect with ACS where variant TT genotype presented more in controls (12%) than cases (1.6%) (P = 0.004) and likewise variant ‘T’ allele was found more in controls than ACS cases (9.4% vs.28.5% respectively: P < 0.05). Further, significantly high difference of CT genotype was seen among cases and controls 15% vs. 33% respectively (P = 0.002). The overall distribution of different haplotypes showed a marked difference in GT when compared with GC between cases and controls (P = 0.0001). Conclusion: The study shows that TT genotype and variant T allele of APOA1 +83 C/T depicted a protective role with respect to ACS whereas APOA1-75G>A showed no relation. Haplotype GT was observed to significantly over-represent in controls with its protective effect in ACS as against wild type haplotype GC.